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Volumn 8, Issue 7, 2013, Pages

High Frequency of Germline TP53 Mutations in a Prospective Adult-Onset Sarcoma Cohort

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN P53;

EID: 84880660114     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0069026     Document Type: Article
Times cited : (49)

References (33)
  • 2
    • 0032480248 scopus 로고    scopus 로고
    • Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome
    • Birch JM, Blair V, Kelsey AM, Evans DG, Harris M, et al. (1998) Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene 17: 1061-1068.
    • (1998) Oncogene , vol.17 , pp. 1061-1068
    • Birch, J.M.1    Blair, V.2    Kelsey, A.M.3    Evans, D.G.4    Harris, M.5
  • 3
    • 0034071085 scopus 로고    scopus 로고
    • P53 germline mutations in childhood cancers and cancer risk for carrier individuals
    • Chompret A, Brugieres L, Ronsin M, Gardes M, Dessarps-Freichey F, et al. (2000) P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 82: 1932-1937.
    • (2000) Br J Cancer , vol.82 , pp. 1932-1937
    • Chompret, A.1    Brugieres, L.2    Ronsin, M.3    Gardes, M.4    Dessarps-Freichey, F.5
  • 4
    • 0035797528 scopus 로고    scopus 로고
    • Relative frequency and morphology of cancers in carriers of germline TP53 mutations
    • Birch JM, Alston RD, McNally RJ, Evans DG, Kelsey AM, et al. (2001) Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20: 4621-4628.
    • (2001) Oncogene , vol.20 , pp. 4621-4628
    • Birch, J.M.1    Alston, R.D.2    McNally, R.J.3    Evans, D.G.4    Kelsey, A.M.5
  • 5
    • 0142157701 scopus 로고    scopus 로고
    • Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype
    • Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, et al. (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63: 6643-6650.
    • (2003) Cancer Res , vol.63 , pp. 6643-6650
    • Olivier, M.1    Goldgar, D.E.2    Sodha, N.3    Ohgaki, H.4    Kleihues, P.5
  • 6
    • 62449249871 scopus 로고    scopus 로고
    • Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations
    • Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, et al. (2009) Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 27: 1250-1256.
    • (2009) J Clin Oncol , vol.27 , pp. 1250-1256
    • Gonzalez, K.D.1    Noltner, K.A.2    Buzin, C.H.3    Gu, D.4    Wen-Fong, C.Y.5
  • 8
    • 77953718900 scopus 로고    scopus 로고
    • TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
    • Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, et al. (2010) TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet 47: 421-428.
    • (2010) J Med Genet , vol.47 , pp. 421-428
    • Ruijs, M.W.1    Verhoef, S.2    Rookus, M.A.3    Pruntel, R.4    van der Hout, A.H.5
  • 9
    • 19744380352 scopus 로고    scopus 로고
    • Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS)
    • Leach MO, Boggis CR, Dixon AK, Easton DF, Eeles RA, et al. (2005) Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 365: 1769-1778.
    • (2005) Lancet , vol.365 , pp. 1769-1778
    • Leach, M.O.1    Boggis, C.R.2    Dixon, A.K.3    Easton, D.F.4    Eeles, R.A.5
  • 10
    • 79957474904 scopus 로고    scopus 로고
    • Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study
    • Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, et al. (2011) Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol 12: 559-567.
    • (2011) Lancet Oncol , vol.12 , pp. 559-567
    • Villani, A.1    Tabori, U.2    Schiffman, J.3    Shlien, A.4    Beyene, J.5
  • 11
    • 50049112746 scopus 로고    scopus 로고
    • Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families
    • Bougeard G, Sesboue R, Baert-Desurmont S, Vasseur S, Martin C, et al. (2008) Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. J Med Genet 45: 535-538.
    • (2008) J Med Genet , vol.45 , pp. 535-538
    • Bougeard, G.1    Sesboue, R.2    Baert-Desurmont, S.3    Vasseur, S.4    Martin, C.5
  • 12
    • 0026525839 scopus 로고
    • Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma
    • Toguchida J, Yamaguchi T, Dayton SH, Beauchamp RL, Herrera GE, et al. (1992) Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. N Engl J Med 326: 1301-1308.
    • (1992) N Engl J Med , vol.326 , pp. 1301-1308
    • Toguchida, J.1    Yamaguchi, T.2    Dayton, S.H.3    Beauchamp, R.L.4    Herrera, G.E.5
  • 13
    • 0026530299 scopus 로고
    • Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms
    • Malkin D, Jolly KW, Barbier N, Look AT, Friend SH, et al. (1992) Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. N Engl J Med 326: 1309-1315.
    • (1992) N Engl J Med , vol.326 , pp. 1309-1315
    • Malkin, D.1    Jolly, K.W.2    Barbier, N.3    Look, A.T.4    Friend, S.H.5
  • 14
    • 77951629484 scopus 로고    scopus 로고
    • TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors
    • Tabori U, Shlien A, Baskin B, Levitt S, Ray P, et al. (2010) TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors. J Clin Oncol 28: 1995-2001.
    • (2010) J Clin Oncol , vol.28 , pp. 1995-2001
    • Tabori, U.1    Shlien, A.2    Baskin, B.3    Levitt, S.4    Ray, P.5
  • 15
    • 33646394043 scopus 로고    scopus 로고
    • BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
    • Lalloo F, Varley J, Moran A, Ellis D, O'Dair L, et al. (2006) BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. Eur J Cancer 42: 1143-1150.
    • (2006) Eur J Cancer , vol.42 , pp. 1143-1150
    • Lalloo, F.1    Varley, J.2    Moran, A.3    Ellis, D.4    O'Dair, L.5
  • 16
    • 0035979262 scopus 로고    scopus 로고
    • An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma
    • Ribeiro RC, Sandrini F, Figueiredo B, Zambetti GP, Michalkiewicz E, et al. (2001) An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci U S A 98: 9330-9335.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 9330-9335
    • Ribeiro, R.C.1    Sandrini, F.2    Figueiredo, B.3    Zambetti, G.P.4    Michalkiewicz, E.5
  • 17
  • 18
    • 84857356609 scopus 로고    scopus 로고
    • Sarcomas in TP53 germline mutation carriers: a review of the IARC TP53 database
    • Ognjanovic S, Olivier M, Bergemann TL, Hainaut P, (2012) Sarcomas in TP53 germline mutation carriers: a review of the IARC TP53 database. Cancer 118: 1387-1396.
    • (2012) Cancer , vol.118 , pp. 1387-1396
    • Ognjanovic, S.1    Olivier, M.2    Bergemann, T.L.3    Hainaut, P.4
  • 19
    • 34248379012 scopus 로고    scopus 로고
    • Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database
    • Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, et al. (2007) Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat 28: 622-629.
    • (2007) Hum Mutat , vol.28 , pp. 622-629
    • Petitjean, A.1    Mathe, E.2    Kato, S.3    Ishioka, C.4    Tavtigian, S.V.5
  • 22
    • 77953734977 scopus 로고    scopus 로고
    • Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study
    • Mouchawar J, Korch C, Byers T, Pitts TM, Li E, et al. (2010) Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study. Cancer Res 70: 4795-4800.
    • (2010) Cancer Res , vol.70 , pp. 4795-4800
    • Mouchawar, J.1    Korch, C.2    Byers, T.3    Pitts, T.M.4    Li, E.5
  • 23
    • 77249085667 scopus 로고    scopus 로고
    • Childhood predictive genetic testing for Li-Fraumeni syndrome
    • Evans DG, Lunt P, Clancy T, Eeles R, (2010) Childhood predictive genetic testing for Li-Fraumeni syndrome. Fam Cancer 9: 65-69.
    • (2010) Fam Cancer , vol.9 , pp. 65-69
    • Evans, D.G.1    Lunt, P.2    Clancy, T.3    Eeles, R.4
  • 24
    • 7044240639 scopus 로고    scopus 로고
    • Inherited cancer in children: practical/ethical problems and challenges
    • Tischkowitz M, Rosser E, (2004) Inherited cancer in children: practical/ethical problems and challenges. Eur J Cancer 40: 2459-2470.
    • (2004) Eur J Cancer , vol.40 , pp. 2459-2470
    • Tischkowitz, M.1    Rosser, E.2
  • 26
    • 0035133356 scopus 로고    scopus 로고
    • Sensitivity and predictive value of criteria for p53 germline mutation screening
    • Chompret A, Abel A, Stoppa-Lyonnet D, Brugieres L, Pages S, et al. (2001) Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 38: 43-47.
    • (2001) J Med Genet , vol.38 , pp. 43-47
    • Chompret, A.1    Abel, A.2    Stoppa-Lyonnet, D.3    Brugieres, L.4    Pages, S.5
  • 27
    • 70349320378 scopus 로고    scopus 로고
    • 2009 version of the Chompret criteria for Li Fraumeni syndrome
    • author reply e110
    • Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, et al. (2009) 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 27: e108-109; author reply e110.
    • (2009) J Clin Oncol , vol.27 , pp. 108-109
    • Tinat, J.1    Bougeard, G.2    Baert-Desurmont, S.3    Vasseur, S.4    Martin, C.5
  • 28
    • 0028220688 scopus 로고
    • Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families
    • Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, et al. (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 54: 1298-1304.
    • (1994) Cancer Res , vol.54 , pp. 1298-1304
    • Birch, J.M.1    Hartley, A.L.2    Tricker, K.J.3    Prosser, J.4    Condie, A.5
  • 29
    • 0029558570 scopus 로고
    • Germline mutations in the TP53 gene
    • Eeles RA, (1995) Germline mutations in the TP53 gene. Cancer Surv 25: 101-124.
    • (1995) Cancer Surv , vol.25 , pp. 101-124
    • Eeles, R.A.1
  • 30
    • 0036733698 scopus 로고    scopus 로고
    • Extraction and amplification of DNA from formalin-fixed, paraffin-embedded tissues
    • Wu L, Patten N, Yamashiro CT, Chui B, (2002) Extraction and amplification of DNA from formalin-fixed, paraffin-embedded tissues. Appl Immunohistochem Mol Morphol 10: 269-274.
    • (2002) Appl Immunohistochem Mol Morphol , vol.10 , pp. 269-274
    • Wu, L.1    Patten, N.2    Yamashiro, C.T.3    Chui, B.4
  • 32
    • 0037816165 scopus 로고    scopus 로고
    • Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis
    • Kato S, Han SY, Liu W, Otsuka K, Shibata H, et al. (2003) Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. Proc Natl Acad Sci U S A 100: 8424-8429.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 8424-8429
    • Kato, S.1    Han, S.Y.2    Liu, W.3    Otsuka, K.4    Shibata, H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.